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NM_007294.4(BRCA1):c.3432G>T (p.Gln1144His) AND Breast-ovarian cancer, familial, susceptibility to, 1

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 29, 2002
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000112097.3

Allele description [Variation Report for NM_007294.4(BRCA1):c.3432G>T (p.Gln1144His)]

NM_007294.4(BRCA1):c.3432G>T (p.Gln1144His)

Genes:
BRCA1:BRCA1 DNA repair associated [Gene - OMIM - HGNC]
LOC126862571:BRD4-independent group 4 enhancer GRCh37_chr17:41243136-41244335 [Gene]
Variant type:
single nucleotide variant
Cytogenetic location:
17q21.31
Genomic location:
Preferred name:
NM_007294.4(BRCA1):c.3432G>T (p.Gln1144His)
HGVS:
  • NC_000017.11:g.43092099C>A
  • NG_005905.2:g.125885G>T
  • NG_087068.1:g.1081C>A
  • NM_001407571.1:c.3219G>T
  • NM_001407581.1:c.3432G>T
  • NM_001407582.1:c.3432G>T
  • NM_001407583.1:c.3432G>T
  • NM_001407585.1:c.3432G>T
  • NM_001407587.1:c.3429G>T
  • NM_001407590.1:c.3429G>T
  • NM_001407591.1:c.3429G>T
  • NM_001407593.1:c.3432G>T
  • NM_001407594.1:c.3432G>T
  • NM_001407596.1:c.3432G>T
  • NM_001407597.1:c.3432G>T
  • NM_001407598.1:c.3432G>T
  • NM_001407602.1:c.3432G>T
  • NM_001407603.1:c.3432G>T
  • NM_001407605.1:c.3432G>T
  • NM_001407610.1:c.3429G>T
  • NM_001407611.1:c.3429G>T
  • NM_001407612.1:c.3429G>T
  • NM_001407613.1:c.3429G>T
  • NM_001407614.1:c.3429G>T
  • NM_001407615.1:c.3429G>T
  • NM_001407616.1:c.3432G>T
  • NM_001407617.1:c.3432G>T
  • NM_001407618.1:c.3432G>T
  • NM_001407619.1:c.3432G>T
  • NM_001407620.1:c.3432G>T
  • NM_001407621.1:c.3432G>T
  • NM_001407622.1:c.3432G>T
  • NM_001407623.1:c.3432G>T
  • NM_001407624.1:c.3432G>T
  • NM_001407625.1:c.3432G>T
  • NM_001407626.1:c.3432G>T
  • NM_001407627.1:c.3429G>T
  • NM_001407628.1:c.3429G>T
  • NM_001407629.1:c.3429G>T
  • NM_001407630.1:c.3429G>T
  • NM_001407631.1:c.3429G>T
  • NM_001407632.1:c.3429G>T
  • NM_001407633.1:c.3429G>T
  • NM_001407634.1:c.3429G>T
  • NM_001407635.1:c.3429G>T
  • NM_001407636.1:c.3429G>T
  • NM_001407637.1:c.3429G>T
  • NM_001407638.1:c.3429G>T
  • NM_001407639.1:c.3432G>T
  • NM_001407640.1:c.3432G>T
  • NM_001407641.1:c.3432G>T
  • NM_001407642.1:c.3432G>T
  • NM_001407644.1:c.3429G>T
  • NM_001407645.1:c.3429G>T
  • NM_001407646.1:c.3423G>T
  • NM_001407647.1:c.3423G>T
  • NM_001407648.1:c.3309G>T
  • NM_001407649.1:c.3306G>T
  • NM_001407652.1:c.3432G>T
  • NM_001407653.1:c.3354G>T
  • NM_001407654.1:c.3354G>T
  • NM_001407655.1:c.3354G>T
  • NM_001407656.1:c.3354G>T
  • NM_001407657.1:c.3354G>T
  • NM_001407658.1:c.3354G>T
  • NM_001407659.1:c.3351G>T
  • NM_001407660.1:c.3351G>T
  • NM_001407661.1:c.3351G>T
  • NM_001407662.1:c.3351G>T
  • NM_001407663.1:c.3354G>T
  • NM_001407664.1:c.3309G>T
  • NM_001407665.1:c.3309G>T
  • NM_001407666.1:c.3309G>T
  • NM_001407667.1:c.3309G>T
  • NM_001407668.1:c.3309G>T
  • NM_001407669.1:c.3309G>T
  • NM_001407670.1:c.3306G>T
  • NM_001407671.1:c.3306G>T
  • NM_001407672.1:c.3306G>T
  • NM_001407673.1:c.3306G>T
  • NM_001407674.1:c.3309G>T
  • NM_001407675.1:c.3309G>T
  • NM_001407676.1:c.3309G>T
  • NM_001407677.1:c.3309G>T
  • NM_001407678.1:c.3309G>T
  • NM_001407679.1:c.3309G>T
  • NM_001407680.1:c.3309G>T
  • NM_001407681.1:c.3309G>T
  • NM_001407682.1:c.3309G>T
  • NM_001407683.1:c.3309G>T
  • NM_001407684.1:c.3432G>T
  • NM_001407685.1:c.3306G>T
  • NM_001407686.1:c.3306G>T
  • NM_001407687.1:c.3306G>T
  • NM_001407688.1:c.3306G>T
  • NM_001407689.1:c.3306G>T
  • NM_001407690.1:c.3306G>T
  • NM_001407691.1:c.3306G>T
  • NM_001407692.1:c.3291G>T
  • NM_001407694.1:c.3291G>T
  • NM_001407695.1:c.3291G>T
  • NM_001407696.1:c.3291G>T
  • NM_001407697.1:c.3291G>T
  • NM_001407698.1:c.3291G>T
  • NM_001407724.1:c.3291G>T
  • NM_001407725.1:c.3291G>T
  • NM_001407726.1:c.3291G>T
  • NM_001407727.1:c.3291G>T
  • NM_001407728.1:c.3291G>T
  • NM_001407729.1:c.3291G>T
  • NM_001407730.1:c.3291G>T
  • NM_001407731.1:c.3291G>T
  • NM_001407732.1:c.3291G>T
  • NM_001407733.1:c.3291G>T
  • NM_001407734.1:c.3291G>T
  • NM_001407735.1:c.3291G>T
  • NM_001407736.1:c.3291G>T
  • NM_001407737.1:c.3291G>T
  • NM_001407738.1:c.3291G>T
  • NM_001407739.1:c.3291G>T
  • NM_001407740.1:c.3288G>T
  • NM_001407741.1:c.3288G>T
  • NM_001407742.1:c.3288G>T
  • NM_001407743.1:c.3288G>T
  • NM_001407744.1:c.3288G>T
  • NM_001407745.1:c.3288G>T
  • NM_001407746.1:c.3288G>T
  • NM_001407747.1:c.3288G>T
  • NM_001407748.1:c.3288G>T
  • NM_001407749.1:c.3288G>T
  • NM_001407750.1:c.3291G>T
  • NM_001407751.1:c.3291G>T
  • NM_001407752.1:c.3291G>T
  • NM_001407838.1:c.3288G>T
  • NM_001407839.1:c.3288G>T
  • NM_001407841.1:c.3288G>T
  • NM_001407842.1:c.3288G>T
  • NM_001407843.1:c.3288G>T
  • NM_001407844.1:c.3288G>T
  • NM_001407845.1:c.3288G>T
  • NM_001407846.1:c.3288G>T
  • NM_001407847.1:c.3288G>T
  • NM_001407848.1:c.3288G>T
  • NM_001407849.1:c.3288G>T
  • NM_001407850.1:c.3291G>T
  • NM_001407851.1:c.3291G>T
  • NM_001407852.1:c.3291G>T
  • NM_001407853.1:c.3219G>T
  • NM_001407854.1:c.3432G>T
  • NM_001407858.1:c.3432G>T
  • NM_001407859.1:c.3432G>T
  • NM_001407860.1:c.3429G>T
  • NM_001407861.1:c.3429G>T
  • NM_001407862.1:c.3231G>T
  • NM_001407863.1:c.3309G>T
  • NM_001407874.1:c.3228G>T
  • NM_001407875.1:c.3228G>T
  • NM_001407879.1:c.3222G>T
  • NM_001407881.1:c.3222G>T
  • NM_001407882.1:c.3222G>T
  • NM_001407884.1:c.3222G>T
  • NM_001407885.1:c.3222G>T
  • NM_001407886.1:c.3222G>T
  • NM_001407887.1:c.3222G>T
  • NM_001407889.1:c.3222G>T
  • NM_001407894.1:c.3219G>T
  • NM_001407895.1:c.3219G>T
  • NM_001407896.1:c.3219G>T
  • NM_001407897.1:c.3219G>T
  • NM_001407898.1:c.3219G>T
  • NM_001407899.1:c.3219G>T
  • NM_001407900.1:c.3222G>T
  • NM_001407902.1:c.3222G>T
  • NM_001407904.1:c.3222G>T
  • NM_001407906.1:c.3222G>T
  • NM_001407907.1:c.3222G>T
  • NM_001407908.1:c.3222G>T
  • NM_001407909.1:c.3222G>T
  • NM_001407910.1:c.3222G>T
  • NM_001407915.1:c.3219G>T
  • NM_001407916.1:c.3219G>T
  • NM_001407917.1:c.3219G>T
  • NM_001407918.1:c.3219G>T
  • NM_001407919.1:c.3309G>T
  • NM_001407920.1:c.3168G>T
  • NM_001407921.1:c.3168G>T
  • NM_001407922.1:c.3168G>T
  • NM_001407923.1:c.3168G>T
  • NM_001407924.1:c.3168G>T
  • NM_001407925.1:c.3168G>T
  • NM_001407926.1:c.3168G>T
  • NM_001407927.1:c.3168G>T
  • NM_001407928.1:c.3168G>T
  • NM_001407929.1:c.3168G>T
  • NM_001407930.1:c.3165G>T
  • NM_001407931.1:c.3165G>T
  • NM_001407932.1:c.3165G>T
  • NM_001407933.1:c.3168G>T
  • NM_001407934.1:c.3165G>T
  • NM_001407935.1:c.3168G>T
  • NM_001407936.1:c.3165G>T
  • NM_001407937.1:c.3309G>T
  • NM_001407938.1:c.3309G>T
  • NM_001407939.1:c.3309G>T
  • NM_001407940.1:c.3306G>T
  • NM_001407941.1:c.3306G>T
  • NM_001407942.1:c.3291G>T
  • NM_001407943.1:c.3288G>T
  • NM_001407944.1:c.3291G>T
  • NM_001407945.1:c.3291G>T
  • NM_001407946.1:c.3099G>T
  • NM_001407947.1:c.3099G>T
  • NM_001407948.1:c.3099G>T
  • NM_001407949.1:c.3099G>T
  • NM_001407950.1:c.3099G>T
  • NM_001407951.1:c.3099G>T
  • NM_001407952.1:c.3099G>T
  • NM_001407953.1:c.3099G>T
  • NM_001407954.1:c.3096G>T
  • NM_001407955.1:c.3096G>T
  • NM_001407956.1:c.3096G>T
  • NM_001407957.1:c.3099G>T
  • NM_001407958.1:c.3096G>T
  • NM_001407959.1:c.3051G>T
  • NM_001407960.1:c.3051G>T
  • NM_001407962.1:c.3048G>T
  • NM_001407963.1:c.3051G>T
  • NM_001407964.1:c.3288G>T
  • NM_001407965.1:c.2928G>T
  • NM_001407966.1:c.2544G>T
  • NM_001407967.1:c.2544G>T
  • NM_001407968.1:c.828G>T
  • NM_001407969.1:c.828G>T
  • NM_001407970.1:c.788-1067G>T
  • NM_001407971.1:c.788-1067G>T
  • NM_001407972.1:c.785-1067G>T
  • NM_001407973.1:c.788-1067G>T
  • NM_001407974.1:c.788-1067G>T
  • NM_001407975.1:c.788-1067G>T
  • NM_001407976.1:c.788-1067G>T
  • NM_001407977.1:c.788-1067G>T
  • NM_001407978.1:c.788-1067G>T
  • NM_001407979.1:c.788-1067G>T
  • NM_001407980.1:c.788-1067G>T
  • NM_001407981.1:c.788-1067G>T
  • NM_001407982.1:c.788-1067G>T
  • NM_001407983.1:c.788-1067G>T
  • NM_001407984.1:c.785-1067G>T
  • NM_001407985.1:c.785-1067G>T
  • NM_001407986.1:c.785-1067G>T
  • NM_001407990.1:c.788-1067G>T
  • NM_001407991.1:c.785-1067G>T
  • NM_001407992.1:c.785-1067G>T
  • NM_001407993.1:c.788-1067G>T
  • NM_001408392.1:c.785-1067G>T
  • NM_001408396.1:c.785-1067G>T
  • NM_001408397.1:c.785-1067G>T
  • NM_001408398.1:c.785-1067G>T
  • NM_001408399.1:c.785-1067G>T
  • NM_001408400.1:c.785-1067G>T
  • NM_001408401.1:c.785-1067G>T
  • NM_001408402.1:c.785-1067G>T
  • NM_001408403.1:c.788-1067G>T
  • NM_001408404.1:c.788-1067G>T
  • NM_001408406.1:c.791-1076G>T
  • NM_001408407.1:c.785-1067G>T
  • NM_001408408.1:c.779-1067G>T
  • NM_001408409.1:c.710-1067G>T
  • NM_001408410.1:c.647-1067G>T
  • NM_001408411.1:c.710-1067G>T
  • NM_001408412.1:c.710-1067G>T
  • NM_001408413.1:c.707-1067G>T
  • NM_001408414.1:c.710-1067G>T
  • NM_001408415.1:c.710-1067G>T
  • NM_001408416.1:c.707-1067G>T
  • NM_001408418.1:c.671-1067G>T
  • NM_001408419.1:c.671-1067G>T
  • NM_001408420.1:c.671-1067G>T
  • NM_001408421.1:c.668-1067G>T
  • NM_001408422.1:c.671-1067G>T
  • NM_001408423.1:c.671-1067G>T
  • NM_001408424.1:c.668-1067G>T
  • NM_001408425.1:c.665-1067G>T
  • NM_001408426.1:c.665-1067G>T
  • NM_001408427.1:c.665-1067G>T
  • NM_001408428.1:c.665-1067G>T
  • NM_001408429.1:c.665-1067G>T
  • NM_001408430.1:c.665-1067G>T
  • NM_001408431.1:c.668-1067G>T
  • NM_001408432.1:c.662-1067G>T
  • NM_001408433.1:c.662-1067G>T
  • NM_001408434.1:c.662-1067G>T
  • NM_001408435.1:c.662-1067G>T
  • NM_001408436.1:c.665-1067G>T
  • NM_001408437.1:c.665-1067G>T
  • NM_001408438.1:c.665-1067G>T
  • NM_001408439.1:c.665-1067G>T
  • NM_001408440.1:c.665-1067G>T
  • NM_001408441.1:c.665-1067G>T
  • NM_001408442.1:c.665-1067G>T
  • NM_001408443.1:c.665-1067G>T
  • NM_001408444.1:c.665-1067G>T
  • NM_001408445.1:c.662-1067G>T
  • NM_001408446.1:c.662-1067G>T
  • NM_001408447.1:c.662-1067G>T
  • NM_001408448.1:c.662-1067G>T
  • NM_001408450.1:c.662-1067G>T
  • NM_001408451.1:c.653-1067G>T
  • NM_001408452.1:c.647-1067G>T
  • NM_001408453.1:c.647-1067G>T
  • NM_001408454.1:c.647-1067G>T
  • NM_001408455.1:c.647-1067G>T
  • NM_001408456.1:c.647-1067G>T
  • NM_001408457.1:c.647-1067G>T
  • NM_001408458.1:c.647-1067G>T
  • NM_001408459.1:c.647-1067G>T
  • NM_001408460.1:c.647-1067G>T
  • NM_001408461.1:c.647-1067G>T
  • NM_001408462.1:c.644-1067G>T
  • NM_001408463.1:c.644-1067G>T
  • NM_001408464.1:c.644-1067G>T
  • NM_001408465.1:c.644-1067G>T
  • NM_001408466.1:c.647-1067G>T
  • NM_001408467.1:c.647-1067G>T
  • NM_001408468.1:c.644-1067G>T
  • NM_001408469.1:c.647-1067G>T
  • NM_001408470.1:c.644-1067G>T
  • NM_001408472.1:c.788-1067G>T
  • NM_001408473.1:c.785-1067G>T
  • NM_001408474.1:c.587-1067G>T
  • NM_001408475.1:c.584-1067G>T
  • NM_001408476.1:c.587-1067G>T
  • NM_001408478.1:c.578-1067G>T
  • NM_001408479.1:c.578-1067G>T
  • NM_001408480.1:c.578-1067G>T
  • NM_001408481.1:c.578-1067G>T
  • NM_001408482.1:c.578-1067G>T
  • NM_001408483.1:c.578-1067G>T
  • NM_001408484.1:c.578-1067G>T
  • NM_001408485.1:c.578-1067G>T
  • NM_001408489.1:c.578-1067G>T
  • NM_001408490.1:c.575-1067G>T
  • NM_001408491.1:c.575-1067G>T
  • NM_001408492.1:c.578-1067G>T
  • NM_001408493.1:c.575-1067G>T
  • NM_001408494.1:c.548-1067G>T
  • NM_001408495.1:c.545-1067G>T
  • NM_001408496.1:c.524-1067G>T
  • NM_001408497.1:c.524-1067G>T
  • NM_001408498.1:c.524-1067G>T
  • NM_001408499.1:c.524-1067G>T
  • NM_001408500.1:c.524-1067G>T
  • NM_001408501.1:c.524-1067G>T
  • NM_001408502.1:c.455-1067G>T
  • NM_001408503.1:c.521-1067G>T
  • NM_001408504.1:c.521-1067G>T
  • NM_001408505.1:c.521-1067G>T
  • NM_001408506.1:c.461-1067G>T
  • NM_001408507.1:c.461-1067G>T
  • NM_001408508.1:c.452-1067G>T
  • NM_001408509.1:c.452-1067G>T
  • NM_001408510.1:c.407-1067G>T
  • NM_001408511.1:c.404-1067G>T
  • NM_001408512.1:c.284-1067G>T
  • NM_001408513.1:c.578-1067G>T
  • NM_001408514.1:c.578-1067G>T
  • NM_007294.4:c.3432G>TMANE SELECT
  • NM_007297.4:c.3291G>T
  • NM_007298.4:c.788-1067G>T
  • NM_007299.4:c.788-1067G>T
  • NM_007300.4:c.3432G>T
  • NP_001394500.1:p.Gln1073His
  • NP_001394510.1:p.Gln1144His
  • NP_001394511.1:p.Gln1144His
  • NP_001394512.1:p.Gln1144His
  • NP_001394514.1:p.Gln1144His
  • NP_001394516.1:p.Gln1143His
  • NP_001394519.1:p.Gln1143His
  • NP_001394520.1:p.Gln1143His
  • NP_001394522.1:p.Gln1144His
  • NP_001394523.1:p.Gln1144His
  • NP_001394525.1:p.Gln1144His
  • NP_001394526.1:p.Gln1144His
  • NP_001394527.1:p.Gln1144His
  • NP_001394531.1:p.Gln1144His
  • NP_001394532.1:p.Gln1144His
  • NP_001394534.1:p.Gln1144His
  • NP_001394539.1:p.Gln1143His
  • NP_001394540.1:p.Gln1143His
  • NP_001394541.1:p.Gln1143His
  • NP_001394542.1:p.Gln1143His
  • NP_001394543.1:p.Gln1143His
  • NP_001394544.1:p.Gln1143His
  • NP_001394545.1:p.Gln1144His
  • NP_001394546.1:p.Gln1144His
  • NP_001394547.1:p.Gln1144His
  • NP_001394548.1:p.Gln1144His
  • NP_001394549.1:p.Gln1144His
  • NP_001394550.1:p.Gln1144His
  • NP_001394551.1:p.Gln1144His
  • NP_001394552.1:p.Gln1144His
  • NP_001394553.1:p.Gln1144His
  • NP_001394554.1:p.Gln1144His
  • NP_001394555.1:p.Gln1144His
  • NP_001394556.1:p.Gln1143His
  • NP_001394557.1:p.Gln1143His
  • NP_001394558.1:p.Gln1143His
  • NP_001394559.1:p.Gln1143His
  • NP_001394560.1:p.Gln1143His
  • NP_001394561.1:p.Gln1143His
  • NP_001394562.1:p.Gln1143His
  • NP_001394563.1:p.Gln1143His
  • NP_001394564.1:p.Gln1143His
  • NP_001394565.1:p.Gln1143His
  • NP_001394566.1:p.Gln1143His
  • NP_001394567.1:p.Gln1143His
  • NP_001394568.1:p.Gln1144His
  • NP_001394569.1:p.Gln1144His
  • NP_001394570.1:p.Gln1144His
  • NP_001394571.1:p.Gln1144His
  • NP_001394573.1:p.Gln1143His
  • NP_001394574.1:p.Gln1143His
  • NP_001394575.1:p.Gln1141His
  • NP_001394576.1:p.Gln1141His
  • NP_001394577.1:p.Gln1103His
  • NP_001394578.1:p.Gln1102His
  • NP_001394581.1:p.Gln1144His
  • NP_001394582.1:p.Gln1118His
  • NP_001394583.1:p.Gln1118His
  • NP_001394584.1:p.Gln1118His
  • NP_001394585.1:p.Gln1118His
  • NP_001394586.1:p.Gln1118His
  • NP_001394587.1:p.Gln1118His
  • NP_001394588.1:p.Gln1117His
  • NP_001394589.1:p.Gln1117His
  • NP_001394590.1:p.Gln1117His
  • NP_001394591.1:p.Gln1117His
  • NP_001394592.1:p.Gln1118His
  • NP_001394593.1:p.Gln1103His
  • NP_001394594.1:p.Gln1103His
  • NP_001394595.1:p.Gln1103His
  • NP_001394596.1:p.Gln1103His
  • NP_001394597.1:p.Gln1103His
  • NP_001394598.1:p.Gln1103His
  • NP_001394599.1:p.Gln1102His
  • NP_001394600.1:p.Gln1102His
  • NP_001394601.1:p.Gln1102His
  • NP_001394602.1:p.Gln1102His
  • NP_001394603.1:p.Gln1103His
  • NP_001394604.1:p.Gln1103His
  • NP_001394605.1:p.Gln1103His
  • NP_001394606.1:p.Gln1103His
  • NP_001394607.1:p.Gln1103His
  • NP_001394608.1:p.Gln1103His
  • NP_001394609.1:p.Gln1103His
  • NP_001394610.1:p.Gln1103His
  • NP_001394611.1:p.Gln1103His
  • NP_001394612.1:p.Gln1103His
  • NP_001394613.1:p.Gln1144His
  • NP_001394614.1:p.Gln1102His
  • NP_001394615.1:p.Gln1102His
  • NP_001394616.1:p.Gln1102His
  • NP_001394617.1:p.Gln1102His
  • NP_001394618.1:p.Gln1102His
  • NP_001394619.1:p.Gln1102His
  • NP_001394620.1:p.Gln1102His
  • NP_001394621.1:p.Gln1097His
  • NP_001394623.1:p.Gln1097His
  • NP_001394624.1:p.Gln1097His
  • NP_001394625.1:p.Gln1097His
  • NP_001394626.1:p.Gln1097His
  • NP_001394627.1:p.Gln1097His
  • NP_001394653.1:p.Gln1097His
  • NP_001394654.1:p.Gln1097His
  • NP_001394655.1:p.Gln1097His
  • NP_001394656.1:p.Gln1097His
  • NP_001394657.1:p.Gln1097His
  • NP_001394658.1:p.Gln1097His
  • NP_001394659.1:p.Gln1097His
  • NP_001394660.1:p.Gln1097His
  • NP_001394661.1:p.Gln1097His
  • NP_001394662.1:p.Gln1097His
  • NP_001394663.1:p.Gln1097His
  • NP_001394664.1:p.Gln1097His
  • NP_001394665.1:p.Gln1097His
  • NP_001394666.1:p.Gln1097His
  • NP_001394667.1:p.Gln1097His
  • NP_001394668.1:p.Gln1097His
  • NP_001394669.1:p.Gln1096His
  • NP_001394670.1:p.Gln1096His
  • NP_001394671.1:p.Gln1096His
  • NP_001394672.1:p.Gln1096His
  • NP_001394673.1:p.Gln1096His
  • NP_001394674.1:p.Gln1096His
  • NP_001394675.1:p.Gln1096His
  • NP_001394676.1:p.Gln1096His
  • NP_001394677.1:p.Gln1096His
  • NP_001394678.1:p.Gln1096His
  • NP_001394679.1:p.Gln1097His
  • NP_001394680.1:p.Gln1097His
  • NP_001394681.1:p.Gln1097His
  • NP_001394767.1:p.Gln1096His
  • NP_001394768.1:p.Gln1096His
  • NP_001394770.1:p.Gln1096His
  • NP_001394771.1:p.Gln1096His
  • NP_001394772.1:p.Gln1096His
  • NP_001394773.1:p.Gln1096His
  • NP_001394774.1:p.Gln1096His
  • NP_001394775.1:p.Gln1096His
  • NP_001394776.1:p.Gln1096His
  • NP_001394777.1:p.Gln1096His
  • NP_001394778.1:p.Gln1096His
  • NP_001394779.1:p.Gln1097His
  • NP_001394780.1:p.Gln1097His
  • NP_001394781.1:p.Gln1097His
  • NP_001394782.1:p.Gln1073His
  • NP_001394783.1:p.Gln1144His
  • NP_001394787.1:p.Gln1144His
  • NP_001394788.1:p.Gln1144His
  • NP_001394789.1:p.Gln1143His
  • NP_001394790.1:p.Gln1143His
  • NP_001394791.1:p.Gln1077His
  • NP_001394792.1:p.Gln1103His
  • NP_001394803.1:p.Gln1076His
  • NP_001394804.1:p.Gln1076His
  • NP_001394808.1:p.Gln1074His
  • NP_001394810.1:p.Gln1074His
  • NP_001394811.1:p.Gln1074His
  • NP_001394813.1:p.Gln1074His
  • NP_001394814.1:p.Gln1074His
  • NP_001394815.1:p.Gln1074His
  • NP_001394816.1:p.Gln1074His
  • NP_001394818.1:p.Gln1074His
  • NP_001394823.1:p.Gln1073His
  • NP_001394824.1:p.Gln1073His
  • NP_001394825.1:p.Gln1073His
  • NP_001394826.1:p.Gln1073His
  • NP_001394827.1:p.Gln1073His
  • NP_001394828.1:p.Gln1073His
  • NP_001394829.1:p.Gln1074His
  • NP_001394831.1:p.Gln1074His
  • NP_001394833.1:p.Gln1074His
  • NP_001394835.1:p.Gln1074His
  • NP_001394836.1:p.Gln1074His
  • NP_001394837.1:p.Gln1074His
  • NP_001394838.1:p.Gln1074His
  • NP_001394839.1:p.Gln1074His
  • NP_001394844.1:p.Gln1073His
  • NP_001394845.1:p.Gln1073His
  • NP_001394846.1:p.Gln1073His
  • NP_001394847.1:p.Gln1073His
  • NP_001394848.1:p.Gln1103His
  • NP_001394849.1:p.Gln1056His
  • NP_001394850.1:p.Gln1056His
  • NP_001394851.1:p.Gln1056His
  • NP_001394852.1:p.Gln1056His
  • NP_001394853.1:p.Gln1056His
  • NP_001394854.1:p.Gln1056His
  • NP_001394855.1:p.Gln1056His
  • NP_001394856.1:p.Gln1056His
  • NP_001394857.1:p.Gln1056His
  • NP_001394858.1:p.Gln1056His
  • NP_001394859.1:p.Gln1055His
  • NP_001394860.1:p.Gln1055His
  • NP_001394861.1:p.Gln1055His
  • NP_001394862.1:p.Gln1056His
  • NP_001394863.1:p.Gln1055His
  • NP_001394864.1:p.Gln1056His
  • NP_001394865.1:p.Gln1055His
  • NP_001394866.1:p.Gln1103His
  • NP_001394867.1:p.Gln1103His
  • NP_001394868.1:p.Gln1103His
  • NP_001394869.1:p.Gln1102His
  • NP_001394870.1:p.Gln1102His
  • NP_001394871.1:p.Gln1097His
  • NP_001394872.1:p.Gln1096His
  • NP_001394873.1:p.Gln1097His
  • NP_001394874.1:p.Gln1097His
  • NP_001394875.1:p.Gln1033His
  • NP_001394876.1:p.Gln1033His
  • NP_001394877.1:p.Gln1033His
  • NP_001394878.1:p.Gln1033His
  • NP_001394879.1:p.Gln1033His
  • NP_001394880.1:p.Gln1033His
  • NP_001394881.1:p.Gln1033His
  • NP_001394882.1:p.Gln1033His
  • NP_001394883.1:p.Gln1032His
  • NP_001394884.1:p.Gln1032His
  • NP_001394885.1:p.Gln1032His
  • NP_001394886.1:p.Gln1033His
  • NP_001394887.1:p.Gln1032His
  • NP_001394888.1:p.Gln1017His
  • NP_001394889.1:p.Gln1017His
  • NP_001394891.1:p.Gln1016His
  • NP_001394892.1:p.Gln1017His
  • NP_001394893.1:p.Gln1096His
  • NP_001394894.1:p.Gln976His
  • NP_001394895.1:p.Gln848His
  • NP_001394896.1:p.Gln848His
  • NP_001394897.1:p.Gln276His
  • NP_001394898.1:p.Gln276His
  • NP_009225.1:p.Gln1144His
  • NP_009225.1:p.Gln1144His
  • NP_009228.2:p.Gln1097His
  • NP_009231.2:p.Gln1144His
  • LRG_292t1:c.3432G>T
  • LRG_292:g.125885G>T
  • LRG_292p1:p.Gln1144His
  • NC_000017.10:g.41244116C>A
  • NM_007294.3:c.3432G>T
  • NR_027676.1:n.3568G>T
  • U14680.1:n.3551G>T
Protein change:
Q1016H
Links:
dbSNP: rs80356922
NCBI 1000 Genomes Browser:
rs80356922
Molecular consequence:
  • NM_001407970.1:c.788-1067G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407971.1:c.788-1067G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407972.1:c.785-1067G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407973.1:c.788-1067G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407974.1:c.788-1067G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407975.1:c.788-1067G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407976.1:c.788-1067G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407977.1:c.788-1067G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407978.1:c.788-1067G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407979.1:c.788-1067G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407980.1:c.788-1067G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407981.1:c.788-1067G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407982.1:c.788-1067G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407983.1:c.788-1067G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407984.1:c.785-1067G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407985.1:c.785-1067G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407986.1:c.785-1067G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407990.1:c.788-1067G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407991.1:c.785-1067G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407992.1:c.785-1067G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407993.1:c.788-1067G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408392.1:c.785-1067G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408396.1:c.785-1067G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408397.1:c.785-1067G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408398.1:c.785-1067G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408399.1:c.785-1067G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408400.1:c.785-1067G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408401.1:c.785-1067G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408402.1:c.785-1067G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408403.1:c.788-1067G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408404.1:c.788-1067G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408406.1:c.791-1076G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408407.1:c.785-1067G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408408.1:c.779-1067G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408409.1:c.710-1067G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408410.1:c.647-1067G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408411.1:c.710-1067G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408412.1:c.710-1067G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408413.1:c.707-1067G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408414.1:c.710-1067G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408415.1:c.710-1067G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408416.1:c.707-1067G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408418.1:c.671-1067G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408419.1:c.671-1067G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408420.1:c.671-1067G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408421.1:c.668-1067G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408422.1:c.671-1067G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408423.1:c.671-1067G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408424.1:c.668-1067G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408425.1:c.665-1067G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408426.1:c.665-1067G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408427.1:c.665-1067G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408428.1:c.665-1067G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408429.1:c.665-1067G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408430.1:c.665-1067G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408431.1:c.668-1067G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408432.1:c.662-1067G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408433.1:c.662-1067G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408434.1:c.662-1067G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408435.1:c.662-1067G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408436.1:c.665-1067G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408437.1:c.665-1067G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408438.1:c.665-1067G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408439.1:c.665-1067G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408440.1:c.665-1067G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408441.1:c.665-1067G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408442.1:c.665-1067G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408443.1:c.665-1067G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408444.1:c.665-1067G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408445.1:c.662-1067G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408446.1:c.662-1067G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408447.1:c.662-1067G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408448.1:c.662-1067G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408450.1:c.662-1067G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408451.1:c.653-1067G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408452.1:c.647-1067G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408453.1:c.647-1067G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408454.1:c.647-1067G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408455.1:c.647-1067G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408456.1:c.647-1067G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408457.1:c.647-1067G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408458.1:c.647-1067G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408459.1:c.647-1067G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408460.1:c.647-1067G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408461.1:c.647-1067G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408462.1:c.644-1067G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408463.1:c.644-1067G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408464.1:c.644-1067G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408465.1:c.644-1067G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408466.1:c.647-1067G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408467.1:c.647-1067G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408468.1:c.644-1067G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408469.1:c.647-1067G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408470.1:c.644-1067G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408472.1:c.788-1067G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408473.1:c.785-1067G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408474.1:c.587-1067G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408475.1:c.584-1067G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408476.1:c.587-1067G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408478.1:c.578-1067G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408479.1:c.578-1067G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408480.1:c.578-1067G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408481.1:c.578-1067G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408482.1:c.578-1067G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408483.1:c.578-1067G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408484.1:c.578-1067G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408485.1:c.578-1067G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408489.1:c.578-1067G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408490.1:c.575-1067G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408491.1:c.575-1067G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408492.1:c.578-1067G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408493.1:c.575-1067G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408494.1:c.548-1067G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408495.1:c.545-1067G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408496.1:c.524-1067G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408497.1:c.524-1067G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408498.1:c.524-1067G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408499.1:c.524-1067G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408500.1:c.524-1067G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408501.1:c.524-1067G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408502.1:c.455-1067G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408503.1:c.521-1067G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408504.1:c.521-1067G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408505.1:c.521-1067G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408506.1:c.461-1067G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408507.1:c.461-1067G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408508.1:c.452-1067G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408509.1:c.452-1067G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408510.1:c.407-1067G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408511.1:c.404-1067G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408512.1:c.284-1067G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408513.1:c.578-1067G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408514.1:c.578-1067G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007298.4:c.788-1067G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007299.4:c.788-1067G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407571.1:c.3219G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407581.1:c.3432G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407582.1:c.3432G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407583.1:c.3432G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407585.1:c.3432G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407587.1:c.3429G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407590.1:c.3429G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407591.1:c.3429G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407593.1:c.3432G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407594.1:c.3432G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407596.1:c.3432G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407597.1:c.3432G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407598.1:c.3432G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407602.1:c.3432G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407603.1:c.3432G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407605.1:c.3432G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407610.1:c.3429G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407611.1:c.3429G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407612.1:c.3429G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407613.1:c.3429G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407614.1:c.3429G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407615.1:c.3429G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407616.1:c.3432G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407617.1:c.3432G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407618.1:c.3432G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407619.1:c.3432G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407620.1:c.3432G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407621.1:c.3432G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407622.1:c.3432G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407623.1:c.3432G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407624.1:c.3432G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407625.1:c.3432G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407626.1:c.3432G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407627.1:c.3429G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407628.1:c.3429G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407629.1:c.3429G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407630.1:c.3429G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407631.1:c.3429G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407632.1:c.3429G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407633.1:c.3429G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407634.1:c.3429G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407635.1:c.3429G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407636.1:c.3429G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407637.1:c.3429G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407638.1:c.3429G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407639.1:c.3432G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407640.1:c.3432G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407641.1:c.3432G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407642.1:c.3432G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407644.1:c.3429G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407645.1:c.3429G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407646.1:c.3423G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407647.1:c.3423G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407648.1:c.3309G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407649.1:c.3306G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407652.1:c.3432G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407653.1:c.3354G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407654.1:c.3354G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407655.1:c.3354G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407656.1:c.3354G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407657.1:c.3354G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407658.1:c.3354G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407659.1:c.3351G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407660.1:c.3351G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407661.1:c.3351G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407662.1:c.3351G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407663.1:c.3354G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407664.1:c.3309G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407665.1:c.3309G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407666.1:c.3309G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407667.1:c.3309G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407668.1:c.3309G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407669.1:c.3309G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407670.1:c.3306G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407671.1:c.3306G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407672.1:c.3306G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407673.1:c.3306G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407674.1:c.3309G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407675.1:c.3309G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407676.1:c.3309G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407677.1:c.3309G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407678.1:c.3309G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407679.1:c.3309G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407680.1:c.3309G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407681.1:c.3309G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407682.1:c.3309G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407683.1:c.3309G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407684.1:c.3432G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407685.1:c.3306G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407686.1:c.3306G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407687.1:c.3306G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407688.1:c.3306G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407689.1:c.3306G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407690.1:c.3306G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407691.1:c.3306G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407692.1:c.3291G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407694.1:c.3291G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407695.1:c.3291G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407696.1:c.3291G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407697.1:c.3291G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407698.1:c.3291G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407724.1:c.3291G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407725.1:c.3291G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407726.1:c.3291G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407727.1:c.3291G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407728.1:c.3291G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407729.1:c.3291G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407730.1:c.3291G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407731.1:c.3291G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407732.1:c.3291G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407733.1:c.3291G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407734.1:c.3291G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407735.1:c.3291G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407736.1:c.3291G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407737.1:c.3291G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407738.1:c.3291G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407739.1:c.3291G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407740.1:c.3288G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407741.1:c.3288G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407742.1:c.3288G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407743.1:c.3288G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407744.1:c.3288G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407745.1:c.3288G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407746.1:c.3288G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407747.1:c.3288G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407748.1:c.3288G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407749.1:c.3288G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407750.1:c.3291G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407751.1:c.3291G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407752.1:c.3291G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407838.1:c.3288G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407839.1:c.3288G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407841.1:c.3288G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407842.1:c.3288G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407843.1:c.3288G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407844.1:c.3288G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407845.1:c.3288G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407846.1:c.3288G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407847.1:c.3288G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407848.1:c.3288G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407849.1:c.3288G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407850.1:c.3291G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407851.1:c.3291G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407852.1:c.3291G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407853.1:c.3219G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407854.1:c.3432G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407858.1:c.3432G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407859.1:c.3432G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407860.1:c.3429G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407861.1:c.3429G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407862.1:c.3231G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407863.1:c.3309G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407874.1:c.3228G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407875.1:c.3228G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407879.1:c.3222G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407881.1:c.3222G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407882.1:c.3222G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407884.1:c.3222G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407885.1:c.3222G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407886.1:c.3222G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407887.1:c.3222G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407889.1:c.3222G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407894.1:c.3219G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407895.1:c.3219G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407896.1:c.3219G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407897.1:c.3219G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407898.1:c.3219G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407899.1:c.3219G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407900.1:c.3222G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407902.1:c.3222G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407904.1:c.3222G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407906.1:c.3222G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407907.1:c.3222G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407908.1:c.3222G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407909.1:c.3222G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407910.1:c.3222G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407915.1:c.3219G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407916.1:c.3219G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407917.1:c.3219G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407918.1:c.3219G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407919.1:c.3309G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407920.1:c.3168G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407921.1:c.3168G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407922.1:c.3168G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407923.1:c.3168G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407924.1:c.3168G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407925.1:c.3168G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407926.1:c.3168G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407927.1:c.3168G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407928.1:c.3168G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407929.1:c.3168G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407930.1:c.3165G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407931.1:c.3165G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407932.1:c.3165G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407933.1:c.3168G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407934.1:c.3165G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407935.1:c.3168G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407936.1:c.3165G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407937.1:c.3309G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407938.1:c.3309G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407939.1:c.3309G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407940.1:c.3306G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407941.1:c.3306G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407942.1:c.3291G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407943.1:c.3288G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407944.1:c.3291G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407945.1:c.3291G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407946.1:c.3099G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407947.1:c.3099G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407948.1:c.3099G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407949.1:c.3099G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407950.1:c.3099G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407951.1:c.3099G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407952.1:c.3099G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407953.1:c.3099G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407954.1:c.3096G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407955.1:c.3096G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407956.1:c.3096G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407957.1:c.3099G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407958.1:c.3096G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407959.1:c.3051G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407960.1:c.3051G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407962.1:c.3048G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407963.1:c.3051G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407964.1:c.3288G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407965.1:c.2928G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407966.1:c.2544G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407967.1:c.2544G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407968.1:c.828G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407969.1:c.828G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007294.4:c.3432G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007297.4:c.3291G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007300.4:c.3432G>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Breast-ovarian cancer, familial, susceptibility to, 1 (BROVCA1)
Synonyms:
OVARIAN CANCER, SUSCEPTIBILITY TO; Breast-ovarian cancer, familial 1; Breast cancer, familial 1
Identifiers:
MONDO: MONDO:0011450; MedGen: C2676676; Orphanet: 145; OMIM: 604370

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000144764Breast Cancer Information Core (BIC) (BRCA1)
no assertion criteria provided
Uncertain significance
(May 29, 2002) 		somaticclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Han Chinese Chinesesomaticyes1not providednot providednot providednot providedclinical testing

Details of each submission

From Breast Cancer Information Core (BIC) (BRCA1), SCV000144764.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Han Chinese Chinese1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1somaticyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Mar 30, 2024